Revel Score:
ENST00000373203 (MANE Select)
0.762
ENST00000344849
0.762
ENST00000545345
0.762
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127826586C>A , CM000671.2:g.127826586C>A | GRCh38 |
| NC_000009.11:g.130588865C>A , CM000671.1:g.130588865C>A | GRCh37 |
| NC_000009.10:g.129628686C>A | NCBI36 |
| NG_009551.1:g.33183G>T , LRG_589:g.33183G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.-100G>T | ENSP00000479015.1:n.-100G>T | |
| ENST00000373203.9:c.447G>T MANE Select | ENSP00000362299.4:p.Trp149Cys | |
| ENST00000344849.4:c.447G>T | ENSP00000341917.3:p.Trp149Cys | |
| ENST00000373203.8:c.447G>T | ENSP00000362299.4:p.Trp149Cys | |
| ENST00000462196.1:n.347G>T | ||
| ENST00000480266.5:c.-100G>T | ENSP00000479015.1:n.-100G>T | |
| NM_000118.3:c.447G>T , LRG_589t1:c.447G>T | NP_000109.1:p.Trp149Cys | |
| NM_001114753.2:c.447G>T , LRG_589t2:c.447G>T | NP_001108225.1:p.Trp149Cys | |
| NM_001278138.1:c.-100G>T | NP_001265067.1:n.-100G>T | |
| XR_001746952.2:n.82+1128C>A | ||
| NM_001114753.3:c.447G>T MANE Select | NP_001108225.1:p.Trp149Cys | |
| NM_001278138.2:c.-100G>T | NP_001265067.1:n.-100G>T |